X pigmentosa

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Actual: Purpose: To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. Methods: We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular
4.9 rating 2025-04-24
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RE MacLaren has previously received grant funding from Biogen and has previously provided independent consultancy advice on X-linked retinitis pigmentosa to Biogen Inc. and Janssen Pharmaceuticals. RE MacLaren is also listed as an inventor on a patent for X-linked retinitis pigmentosa gene therapy owned by the University of Oxford.

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Purpose: Retinitis pigmentosa GTPase regulator–associated X-linked retinitis pigmentosa (RPGR-associated XLRP) is a rare and severe form of retinitis pigmentosa, resulting in progressive visual impairment; however, disease progression data are limited.A systematic literature review was conducted to assess available data on disease progression in RPGR-associated XLRP.

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An investigational gene therapy for males with X-linked retinitis pigmentosa The VISTA Clinical Trial The VISTA clinical trial is for male patients ages 13–50 years (inclusive) diagnosed with X-linked retinitis pigmentosa (XLRP), a rare form of RP that causes progressive vision loss. The multicenter study will assess the safety, tolerability

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X-linked retinitis pigmentosa (XLRP) is the most severe form of Retinitis Pigmentosa (RP) and one of the leading causes of blindness in the world. Currently, there is no effective treatment for RP.

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X-linked retinitis pigmentosa (XLRP) is a severe form of retinitis pigmentosa (RP), a rare, inherited retinal degenerative disorder, that causes blindness. The aim of this literature review was to identify what is currently known about the burden of

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To evaluate how intervention with a gene therapy for X-linked retinitis pigmentosa (XLRP) associated with disease-causing sequence variants in Retinitis Pigmentosa GTPase Regulator (RPGR) affects the natural progression of the disease. RPGR-associated XLRP is among the most severe forms of retinitis pigmentosa, which is the most prevalent

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Schwahn U, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 2025;7 332. doi: 10.1038/1214. [Google Scholar] 9. Bader I, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

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We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants. Longitudinal data from 84 genetically confirmed XLRP patients were collected from the Danish Retinitis Pigmentosa

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Retinitis pigmentosa (RP) affects 1/4000 individuals in most populations, and X-linked RP (XLRP) is one of the most severe forms of human retinal degeneration. Mutations in both the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene account for almost all cases o

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